Incidental Mutation 'R7128:Smc6'
ID 552480
Institutional Source Beutler Lab
Gene Symbol Smc6
Ensembl Gene ENSMUSG00000020608
Gene Name structural maintenance of chromosomes 6
Synonyms 3830418C19Rik, Smc6l1, 2810489L22Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7128 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 11315887-11369786 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 11351632 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 887 (E887G)
Ref Sequence ENSEMBL: ENSMUSP00000020931 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020931] [ENSMUST00000218022]
AlphaFold Q924W5
Predicted Effect probably damaging
Transcript: ENSMUST00000020931
AA Change: E887G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000020931
Gene: ENSMUSG00000020608
AA Change: E887G

DomainStartEndE-ValueType
Pfam:SMC_N 53 1077 4.7e-17 PFAM
Pfam:AAA_15 54 438 3.1e-9 PFAM
Pfam:AAA_23 56 398 5e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000217930
Predicted Effect probably benign
Transcript: ENSMUST00000217991
Predicted Effect probably benign
Transcript: ENSMUST00000218022
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a gene trap allele exhibit poor embryonic development and embryonic lethality by E105. Mice homozygous for a hypomorphic allele exhibit decreased body weight and weight, decreased litter size and partial lethality. Mice homozygous for a point mutation exhibit a milder phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgb T C 10: 10,347,985 (GRCm39) D25G probably benign Het
Ak9 T C 10: 41,300,713 (GRCm39) V1641A unknown Het
Akirin2 T C 4: 34,562,435 (GRCm39) I118T probably benign Het
Aldh1l1 G T 6: 90,540,361 (GRCm39) Q215H probably benign Het
Arhgef26 T C 3: 62,326,971 (GRCm39) F495L possibly damaging Het
Atg4a-ps T A 3: 103,553,063 (GRCm39) R93* probably null Het
Brd10 T C 19: 29,693,881 (GRCm39) T1871A possibly damaging Het
Catsper3 A G 13: 55,946,662 (GRCm39) I120V probably benign Het
Cavin2 A G 1: 51,328,579 (GRCm39) Q12R possibly damaging Het
Cenpf A T 1: 189,417,188 (GRCm39) F39Y probably damaging Het
Chfr T C 5: 110,291,502 (GRCm39) Y107H probably benign Het
Cmtm1 CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT 8: 105,036,102 (GRCm39) probably benign Het
Defb4 T A 8: 19,251,220 (GRCm39) I29K possibly damaging Het
Dnah7c A G 1: 46,566,645 (GRCm39) T619A probably benign Het
Duxf1 T C 10: 58,059,479 (GRCm39) Q425R unknown Het
Emc3 A G 6: 113,494,881 (GRCm39) L179P probably damaging Het
Eno3 G C 11: 70,549,430 (GRCm39) V84L possibly damaging Het
Fam110a C T 2: 151,812,642 (GRCm39) V43M probably damaging Het
Fbxo30 T A 10: 11,165,860 (GRCm39) L194* probably null Het
Galnt14 T C 17: 73,852,096 (GRCm39) T108A probably benign Het
Glipr2 T C 4: 43,968,601 (GRCm39) I51T probably benign Het
Gm1527 C T 3: 28,969,460 (GRCm39) S270F possibly damaging Het
Gm3336 A G 8: 71,171,203 (GRCm39) M1V probably null Het
Gm4744 T C 6: 40,927,310 (GRCm39) D15G Het
Gm4924 G A 10: 82,214,533 (GRCm39) C777Y unknown Het
Gm5901 G A 7: 105,027,408 (GRCm39) G306S probably damaging Het
Gon4l T A 3: 88,802,999 (GRCm39) N1203K possibly damaging Het
Gpr161 A T 1: 165,138,026 (GRCm39) Y204F possibly damaging Het
Igsf10 T C 3: 59,236,326 (GRCm39) E1285G probably benign Het
Irx6 T C 8: 93,403,994 (GRCm39) L187P probably damaging Het
Itgb1bp1 A G 12: 21,322,089 (GRCm39) Y117H probably benign Het
Itln1 C A 1: 171,358,143 (GRCm39) D202Y possibly damaging Het
Kctd9 T C 14: 67,975,972 (GRCm39) S242P probably benign Het
Lrrk2 A G 15: 91,686,088 (GRCm39) H2143R probably benign Het
Lynx1 G A 15: 74,623,398 (GRCm39) R50* probably null Het
Lypd11 C T 7: 24,425,424 (GRCm39) probably null Het
Map10 A G 8: 126,398,592 (GRCm39) I662V probably benign Het
Mlxipl T C 5: 135,162,705 (GRCm39) L691P probably damaging Het
Muc16 A G 9: 18,554,300 (GRCm39) S3998P unknown Het
Nalcn A T 14: 123,831,914 (GRCm39) V120E probably damaging Het
Nfat5 T C 8: 108,085,323 (GRCm39) S539P probably benign Het
Olfml3 T C 3: 103,644,484 (GRCm39) M62V probably benign Het
Orm3 T C 4: 63,276,062 (GRCm39) V158A probably benign Het
Pakap T C 4: 57,855,816 (GRCm39) S382P probably benign Het
Pced1b A T 15: 97,282,479 (GRCm39) K173* probably null Het
Pdzd7 T C 19: 45,016,388 (GRCm39) D911G probably damaging Het
Pkn3 A G 2: 29,973,327 (GRCm39) D383G probably damaging Het
Pm20d1 A G 1: 131,725,292 (GRCm39) E46G probably benign Het
Pyroxd2 A T 19: 42,719,842 (GRCm39) S455T probably benign Het
Rmnd5b T A 11: 51,515,364 (GRCm39) I301F possibly damaging Het
Rnf225 A G 7: 12,661,911 (GRCm39) N30S probably benign Het
Shisal2a G T 4: 108,225,100 (GRCm39) T154K probably benign Het
Slfn3 T A 11: 83,105,721 (GRCm39) C573S probably benign Het
Sp140 A T 1: 85,547,846 (GRCm39) D191V possibly damaging Het
Srf C T 17: 46,866,372 (GRCm39) S128N possibly damaging Het
Sult6b1 T C 17: 79,202,070 (GRCm39) D144G probably damaging Het
Syne1 G A 10: 5,193,180 (GRCm39) A3956V probably damaging Het
Syt10 A T 15: 89,698,314 (GRCm39) D343E probably damaging Het
Tgtp2 G A 11: 48,950,135 (GRCm39) R146C possibly damaging Het
Tmcc3 A T 10: 94,266,496 (GRCm39) probably benign Het
Tnfrsf1a A T 6: 125,338,499 (GRCm39) T337S probably benign Het
Tns1 A T 1: 74,034,463 (GRCm39) I144N Het
Trim11 A G 11: 58,869,103 (GRCm39) E13G probably damaging Het
Trpm6 A T 19: 18,789,137 (GRCm39) H569L possibly damaging Het
Ttbk2 T A 2: 120,576,569 (GRCm39) I803L probably benign Het
Vmn1r21 G T 6: 57,820,936 (GRCm39) N169K probably damaging Het
Vmn2r60 C T 7: 41,844,536 (GRCm39) T633I probably damaging Het
Wt1 T C 2: 104,957,670 (GRCm39) Y177H probably benign Het
Other mutations in Smc6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00433:Smc6 APN 12 11,349,264 (GRCm39) missense possibly damaging 0.48
IGL00562:Smc6 APN 12 11,351,532 (GRCm39) missense probably benign 0.02
IGL00563:Smc6 APN 12 11,351,532 (GRCm39) missense probably benign 0.02
IGL01420:Smc6 APN 12 11,341,659 (GRCm39) missense probably benign 0.27
IGL02299:Smc6 APN 12 11,340,752 (GRCm39) missense probably benign 0.00
R0207:Smc6 UTSW 12 11,333,179 (GRCm39) unclassified probably benign
R0365:Smc6 UTSW 12 11,333,175 (GRCm39) critical splice donor site probably null
R0669:Smc6 UTSW 12 11,339,165 (GRCm39) missense probably benign 0.41
R0732:Smc6 UTSW 12 11,340,818 (GRCm39) missense probably damaging 0.96
R1398:Smc6 UTSW 12 11,321,880 (GRCm39) splice site probably benign
R1509:Smc6 UTSW 12 11,329,734 (GRCm39) missense possibly damaging 0.55
R1739:Smc6 UTSW 12 11,367,854 (GRCm39) missense probably benign 0.05
R1775:Smc6 UTSW 12 11,359,270 (GRCm39) missense probably benign 0.00
R1815:Smc6 UTSW 12 11,344,602 (GRCm39) critical splice donor site probably null
R1937:Smc6 UTSW 12 11,349,399 (GRCm39) missense probably benign 0.06
R2090:Smc6 UTSW 12 11,339,987 (GRCm39) missense probably benign 0.08
R2885:Smc6 UTSW 12 11,326,294 (GRCm39) missense probably damaging 0.99
R2886:Smc6 UTSW 12 11,326,294 (GRCm39) missense probably damaging 0.99
R2991:Smc6 UTSW 12 11,339,982 (GRCm39) missense probably damaging 0.96
R3825:Smc6 UTSW 12 11,351,517 (GRCm39) splice site probably benign
R3967:Smc6 UTSW 12 11,348,327 (GRCm39) missense probably benign 0.13
R3975:Smc6 UTSW 12 11,324,075 (GRCm39) missense probably damaging 0.99
R4660:Smc6 UTSW 12 11,324,008 (GRCm39) missense probably damaging 1.00
R5372:Smc6 UTSW 12 11,332,431 (GRCm39) missense probably damaging 1.00
R5412:Smc6 UTSW 12 11,335,400 (GRCm39) missense possibly damaging 0.88
R5523:Smc6 UTSW 12 11,341,540 (GRCm39) missense probably benign 0.31
R5643:Smc6 UTSW 12 11,339,995 (GRCm39) missense probably benign 0.18
R5644:Smc6 UTSW 12 11,339,995 (GRCm39) missense probably benign 0.18
R5782:Smc6 UTSW 12 11,340,835 (GRCm39) missense probably damaging 1.00
R6027:Smc6 UTSW 12 11,356,179 (GRCm39) missense probably benign 0.04
R6083:Smc6 UTSW 12 11,326,354 (GRCm39) missense possibly damaging 0.95
R6344:Smc6 UTSW 12 11,347,107 (GRCm39) intron probably benign
R6374:Smc6 UTSW 12 11,355,874 (GRCm39) splice site probably null
R6430:Smc6 UTSW 12 11,359,235 (GRCm39) missense probably benign 0.00
R6539:Smc6 UTSW 12 11,347,011 (GRCm39) splice site probably null
R6767:Smc6 UTSW 12 11,321,821 (GRCm39) missense possibly damaging 0.93
R7042:Smc6 UTSW 12 11,359,301 (GRCm39) missense probably damaging 1.00
R7477:Smc6 UTSW 12 11,321,808 (GRCm39) missense probably benign
R7698:Smc6 UTSW 12 11,333,141 (GRCm39) missense possibly damaging 0.92
R7832:Smc6 UTSW 12 11,367,844 (GRCm39) missense probably benign 0.28
R7863:Smc6 UTSW 12 11,339,130 (GRCm39) missense probably benign 0.00
R8192:Smc6 UTSW 12 11,349,336 (GRCm39) missense probably benign 0.01
R8229:Smc6 UTSW 12 11,341,673 (GRCm39) missense probably benign 0.25
R8289:Smc6 UTSW 12 11,324,052 (GRCm39) missense probably benign 0.41
R9233:Smc6 UTSW 12 11,359,291 (GRCm39) missense probably benign 0.15
R9596:Smc6 UTSW 12 11,345,045 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- ACAAGTTATTAGTCCTGTGCATAGG -3'
(R):5'- TTTGATCACCCGTGAAGCTG -3'

Sequencing Primer
(F):5'- GTGCTAACAACTGGCTGTAACTGC -3'
(R):5'- CACCCGTGAAGCTGAATATTTTTC -3'
Posted On 2019-05-15